Malignant peripheral nerve sheath tumor (MPNST) is a rare manifestation of the genetic condition Neurofibromatosis Type 1 (NF1), however, it’s the leading cause of death for the population of people with NF1. It is a type of soft tissue sarcoma that is generally resistant to chemotherapy and radiation therapy and frequently occurs in regions of the body that preclude potentially curative resection. Because of the tremendous negative impact MPNST has on all people with NF1 (either via causing direct illness or via the burden of worry that it may develop), there are extensive research efforts underway to: 
1. Identify early stages of malignant transformation allowing for prevention of MPNST
2. Develop more accurate and targeted clinical screening for MPNST both before diagnosis and after treatment
3. Create more precise molecularly driven therapeutics based on modern preclinical models and 
4. For new therapeutics in clinical trials. 

Moderator, Dr Sue-Faye Siow, introduces a panel of knowledgeable speakers to discuss ideal models of care and service delivery and strategies to improve access to comprehensive NF care in Australia.

GHQ is the statewide service for Queensland. Patient of all ages across the state are seen by GHQ, both general and cancer. The presentation describes the referral process to GHQ, some patients and the challenges of service delivery to our NF patients 

The panel discussion explores current NF models of care across WA, SA, QLD, NSW and VIC, the challenges faced and strategies that work in NF service delivery.

The panel discussion continues with consideration of solutions to address identified challenges, potential collaborations, and how to leverage existing resources to optimise care delivery for NF across Australia. 

Screening for an optic pathway glioma in patients with NF1 is crucial in preventing vision reduction and neurological damage. Studies comparing screening strategies of NF1 centres in Europe and the USA identified a lack of uniformity in the frequency of reviews, duration of screening and ocular testing. 

To address the pressing need for a structured screening program at the Royal Children’s Hospital (RCH) and to provide a streamlined clinical service, the RCH Orthoptist-led NF1 screening clinic was implemented in 2016. This collaboration between the departments of ophthalmology and neurology at the RCH was developed for children diagnosed with NF1 and no known OPGs. 

Using evidence-based research from both departments, a strict protocol was designed. This clinic has created uniformity in NF1 ocular testing, provided regular appointment reviews, and increased clinic capacity and efficiency. 

A subsequent costing study was conducted, comparing orthoptist-led with consultant-led clinics for OPG screening of children with NF1. As health care carries a significant cost across all societies, we believe this study can help future health policy decision making for the allocation of ophthalmic screening resources to ensure patients with NF1 are screened appropriately and in a timely manner.

A multiagency consultative service commencing in 2022 will be described. The concept and operations (from triage to discharge) will be briefly discussed. A few examples of successful outcomes will be highlighted. 

Over 6% of children and adolescents with NF1 have hypertension, double that of the general population. Telehealth is increasingly desirable option for families, but the need for in-person BP measurement is a substantial barrier to this less-burdensome option. This study aimed to determine the feasibility of sending a BP monitor to the patient’s home to assess whether home BP was comparable to clinic BP. 

Fifty-two children and adolescents (range: 5.8-18.3 years) attending the NF clinic at the Royal Children’s Hospital were recruited. Each participant completed three clinic BPs and one BP with an automated device, then BP was measured once per day at home for three days. Daily Children’s Anxiety Meter Scale (CAM-S) and an end of study survey were completed. On study completion families posted the BP device back to the hospital. 

Results found home vs manual and home vs automated clinic SBPs were relatively similar (2.3±8.3mmHg (mean±SD), p=0.06 and 1.2±11.0mmHg, p=0.47). Of the 52 families recruited, 47/52 (90.4%) returned their device. This study found home BP monitoring was feasible, equivalent to clinic BPs, and not anxiety-producing for patients. Telehealth with a hospital-loaned home BP monitor is viable and preferable to in-person appointments. 

As individuals age, cNFs grow in size and number, and disfigurement resulting in emotional suffering from stigma and self-imposed social isolation. NF1 disease visibility has been associated with psychiatric morbidity, and depression. 

With the use of laser, electrodessication, surgical excision and, recent developments in the use of topical treatments for CNFs, there is a need to establish internationally standardised measures of treatment success. 

RNSH have partnered with Johns Hopkins University and Henri Mondor Hospital in Paris to develop and test outcomes for CNF treatment. These protocols will enable assessment of new therapies as they emerge (e.g., therapeutics, devices or drug treatments). This presentation will focus on current and emerging CNF therapies and outcome measures 

Currently children who are newly diagnosed with NF1 with significant complications (complex NF1) are cared for through the Children’s Hospital at Westmead specialist clinic. Children who are newly diagnosed with NF1 and do not have complications which require tertiary services (non-complex NF1) are referred to local healthcare providers for ongoing surveillance. CHW has developed a new model of care which will encourage all families with a new diagnosis of “non- complex” NF1 to attend a telehealth “new diagnosis” appointment with our specialist nurse and genetic counsellor. Their local paediatrician will also be invited to attend, to ensure that local providers are upskilled and empowered to manage children with NF1 as close to home as possible.

Discussion on lightning talks 

As the only non-clinical NF support service for children, adults and their families, the CTF works alongside the medical community to provide connection and education, while also advocating at an individual and organisational level to support improved health outcomes. Ruth will share examples of the impact of our organisation and how we fit within the model of care. 

Discussion on Session 2